FANCA S1088F
Gene Variant Detail

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Gene FANCA
Variant S1088F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FANCA S1088F lies within the leucine zipper domain of the Fanca protein (PMID: 22194614). The functional effect of S1088F is conflicting as it results in decreased Fancd2 and Fanci monoubiquitination and decreased DNA repair in response to mitomycin C treatment in culture in one study (PMID: 28864460), but restores Fancd2 monoubiquitination and confers resistance to mitomycin C-induced cell death and G2/M cell cycle block to levels similar of wild-type protein in FANCA-null cells in another study (PMID: 31586946).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA S1088F

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Transcript NM_000135.4
gDNA chr16:g.89748744G>A
cDNA c.3263C>T
Protein p.S1088F
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.